Endocrine Abstracts

Marshall-Smith syndrome (MSS) is a congenital disorder characterised by developmental delay, short stature, respiratory difficulties, distinctive facial features, skeletal abnormalities (such as kyphoscoliosis, dysostosis and osteopenia) and delayed neural development, and is due to heterozygous mutations that are clustered in exons 6–10 of the transcription factor nuclear factor I/X (NFIX) gene. These frameshift and splice-site NFIX variants result in t...

Polycystic ovary syndrome (PCOS) is a common endocrinopathy is associated with an adverse metabolic profile including obesity, insulin resistance, and dyslipidaemia. Hyperandrogenism is the hallmark of PCOS and androgen production is increased in the presence of increased adiposity. While a clear link between obesity and the severity of PCOS exists, the relationship between hyperandrogenism and adipose tissue is less clear. Interestingly, women with PCOS and raised androgen le...

Both brown (BAT) and white (WAT) adipose tissue have neuroanatomically well characterized sympathetic innervation (with activation initiating lipid mobilization), but little evidence to support the presence of a (putatively counter-regulatory) parasympathetic input.Parasympathetic actions are mediated through muscarinic acetylcholine receptors (mAChR). The mouse 3T3-L1 (white fat-derived) cell line expresses M1, M3 and M4 mAChR during differen...

Polycystic ovary syndrome (PCOS) is a common endocrinopathy that is associated with an adverse metabolic profile including insulin resistance and dyslipidaemia. Hyperandrogenism is the hallmark of PCOS and obesity increases androgen synthesis, partly due to accompanying hyperinsulinemia but also as a result of adipokines affecting ovarian steroidogenesis (Comim et al., 2013, PLoS ONE 8(11). Adipokines are factors secreted by adipose tissue and while a clear link betwe...

Background: Obesity is a global health concern. Elevating energy expenditure (EE) would be a highly effective treatment approach to treat obesity but no current drugs can safely achieve this. Cold exposure potently increases EE through brown adipose tissue (BAT) thermogenesis in humans. Glucagon elevates EE via BAT in rodents but the mechanism in humans is unknown. We investigated for the first time the mechanism by which glucagon increases EE in humans....

Background: Obesity is a major medical health problem. Human brown adipose tissue (BAT) is potently activated by cold exposure and is a potential novel anti-obesity target. The current gold standard for measuring BAT activity in humans is 18F-FDG PET/CT. However it has two major limitations – exposure to ionizing radiation and high cost. Since BAT is a thermogenic organ located in the supraclavicular and neck regions, we hypothesised that an increase in tempera...

Brown adipose tissue (BAT), in addition to its role in adaptive thermogenesis, secretes regulatory factors (brown adipokines or ‘batokines’) that have autocrine, paracrine, and endocrine actions. Local secretion of brown adipokines by brown adipocytes target distinct cell types in the tissue (e.g. vascular cells, sympathetic nerve endings, immune cells) and promote the remodeling of BAT in response to distinct physiological conditions requiring adaptive thermogenesis...

The thermogenic activity of brown adipose tissue (BAT) may be a major determinant of energy balance and thus of obesity versus slimness. The acute and chronic regulation of BAT may therefore be a significant issue in body weight control. From a classical aspect where BAT is only controlled by nervous input, we see today a growing array of factors that have been forwarded as being physiologically important regulators. These factors include both classical hormones such as thyroi...

Brown adipose tissue was classically a tissue with scientifically interesting bioenergetic features, manifest by the unique presence of uncoupling protein-1 in only this tissue – but it was considered to have no metabolic significance for adult humans. The acceptance within the last years of its presence in adult humans has intensified interest in its potential ability not only to keep us warm but particularly to burn excess energy, i.e. to keep us slim, and – throug...

Background: Brown tumor of bone is a non-neoplastic lesion resulting from abnormal bone metabolism in hyperparathyroidism. Brown tumor, as the only and initial symptom of normocalcemic primary hyperparathyroidism is extremely rare.Case presentation: A 69-year-old female patient was admitted to the hospital with a mass in the right thigh. A mass lesion of the right distal femur with bone and soft tissue infiltration was observed in the lower extremity mag...